Your Question

I am a layperson and many articles I have seen are geared toward those with medical backgrounds. Has it been determined that pentalogy of Cantrell is genetic? Is it X-linked? Does this mean that male children are at risk? And how does this impact future siblings?

Our Answer

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Pentalogy of Cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone (sternum); the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm); the thin membrane that lines the heart (pericardium); the abdominal wall; and the heart.[1] It can have varying degrees of severity, and can be lethal. Most affected infants do not have all potential defects (incomplete pentalogy of Cantrell). The exact cause of the condition is not known.[1] Most cases occur sporadically, but familial cases have been reported.[2] Treatment is based on the symptoms present in each affected person.[3]

Last updated: 9/29/2014

Is pentalogy of Cantrell inherited?

The underlying cause of pentalogy of Cantrell is not known, and the involvement of genetic factors is unclear. It usually occurs sporadically, not having been inherited, in infants with no family history of the condition.

A genetic component has been considered due to a few reports of familial cases. It has been reported in male siblings (suggesting X-linked recessive inheritance) as well as in a mother and 2 daughters (suggesting some type of dominant inheritance).[4][5]

The genetics of pentalogy of Cantrell is not well understood, and no inheritance pattern has been confirmed. X-linked recessive inheritance was suggested when the condition was reported in male siblings. However, other familial cases without X-linked recessive inheritance patterns have also been reported, in addition to an association with several chromosome abnormalities. Most cases of pentalogy of Cantrell appear to occur sporadically and are not inherited.[4][5][6]

Last updated: 9/29/2014

Are male children at a greater risk than female children of having pentalogy of Cantrell?

According to the medical literature, males and females are affected in equal numbers, suggesting that neither sex is at an increased risk over the other.[7]

Last updated: 5/27/2009

How does pentalogy of Cantrell impact future pregnancies?

Because pentalogy of Cantrell is so rare and the underlying cause is unclear, the exact recurrence risk for the condition is not known. Most cases are sporadic, which means they occur in people with no family history of the condition and are not thought to be inherited. However, familial cases have been reported.

People with questions about familial recurrence of pentalogy of Cantrell in regards to themselves or family members should speak with a genetics professional.